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Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly(MRT80)

MedGen UID:
1052333
Concept ID:
CN375872
Disease or Syndrome
Synonym: MRT80
 
Gene (location): CASP2 (7q34)
 
Monarch Initiative: MONDO:0957999
OMIM®: 620653

Definition

Autosomal recessive intellectual developmental disorder-80 with variant lissencephaly (MRT80) is characterized by global developmental delay with mildly to moderately impaired intellectual development and behavioral abnormalities. Speech delay and motor abnormalities, such as hypotonia, may also be present. Brain imaging shows lissencephaly with pachygyria and mild cortical thickening in the frontotemporal lobes (Uctepe et al., 2024). [from OMIM]

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